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5 results on '"Mazarib, Aziz"'

2. Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families

Author

Marini, Carla, primary, Scheffer, Ingrid E., additional, Crossland, Kathryn M., additional, Grinton, Bronwyn E., additional, Phillips, Fiona L., additional, McMahon, Jacinta M., additional, Turner, Samantha J., additional, Dean, Joanne T., additional, Kivity, Sara, additional, Mazarib, Aziz, additional, Neufeld, Miriam Y., additional, Korczyn, Amos D., additional, Harkin, Louise A., additional, Dibbens, Leanne M., additional, Wallace, Robyn H., additional, Mulley, John C., additional, and Berkovic, Samuel F., additional

Published
2004
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4. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32

Author

Blumen, Sergiu C., primary, Bevan, Simon, additional, Abu‐Mouch, Saif, additional, Negus, David, additional, Kahana, Michael, additional, Inzelberg, Rifka, additional, Mazarib, Aziz, additional, Mahamid, Ahmad, additional, Carasso, Ralph L., additional, Slor, Hanoch, additional, Withers, David, additional, Nisipeanu, Puiu, additional, Navon, Ruth, additional, and Reid, Evan, additional

Published
2003
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5. Does aSCN1Agene mutation confer earlier age of onset of febrile seizures in GEFS+?

Author

Dorit Lev, Ashalata Radhakrishnan, Leanne M. Dibbens, Samuel F. Berkovic, Angelique E J Sijben, Aziz Mazarib, Radwa A.B. Badawy, Pasiri Sithinamsuwan, Ingrid E. Scheffer, Tally Lerman-Sagie, Rachel Straussberg, Sijben, Angelique EJ, Sithinamsuwan, Pasiri, Radhakrishnan, Ashalata, Badawy, Radwa AB, Dibbens, Leanne, Mazarib, Aziz, Lev, Dorit, Lerman-Sagie, Tally, Straussberg, Rachel, Berkovic, Samuel F, and Scheffer, Ingrid E

Subjects
Male, GEFS+, medicine.medical_specialty, DNA Mutational Analysis, Clinical Sciences, Nerve Tissue Proteins, GABRG2, Gastroenterology, Seizures, Febrile, Sodium Channels, Statistics, Nonparametric, Epilepsy, age of onset, Childhood absence epilepsy, Dravet syndrome, SCN1B, Internal medicine, Febrile seizure, Confidence Intervals, medicine, Humans, febrile seizures, SCN1A, Age of Onset, Generalized epilepsy, Child, Family Health, biology, business.industry, Infant, Electroencephalography, Receptors, GABA-A, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, Neurology, Child, Preschool, Anesthesia, Mutation, biology.protein, Epilepsy, Generalized, Female, Neurology (clinical), Age of onset, business
Abstract

SCN1A is the most clinically relevant epilepsy gene and is associated with generalized epilepsy and febrile seizure plus (GEFS+) and Dravet syndrome. We postulated that earlier onset of febrile seizures in the febrile seizure (FS) and febrile seizure plus (FS+) phenotypes may occur in the presence of a SCN1A mutation. This was because of the age-related onset of Dravet syndrome, which typically begins in the first year of life. We found that patients with FS and FS+ with SCN1A mutations had earlier median onset of febrile seizures compared to the population median. Patients with GABRG2 mutations had a similar early onset in contrast to patients with SCN1B mutations where onset was later. This study is the first to demonstrate that a specific genetic abnormality directly influences the FS and FS+ phenotype in terms of age of onset. Refereed/Peer-reviewed

Published
2009

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